A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889110



Internal ID22664123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43484166..43486919hg38UCSC Ensembl
chr5:43484268..43487021hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg382754
hg192754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17418031
Samples
Known GenesC5orf34
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889110
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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